A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142249



Internal ID18912860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1156892..1156977hg38UCSC Ensembl
Outerchr19:1156891..1156976hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993754
SamplesKWS2
Known GenesSBNO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142249
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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